Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: NIPBL HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011512317.1:p.Val1748Leu	CA359487842 XM_011514015.1:c.5242G>T CA359487844 XM_011514015.1:c.5242G>C